Spontaneous calcific cerebral embolization revealing a calcified rheumatic mitral stenosis: a case report.

Background: Cerebral cardiac embolism accounts for an increasing proportion of ischemic strokes and transient ischemic attacks. Calcified cerebral emboli are rare and mostly iatrogenic secondary to heart or aorta catheterization. However, spontaneous cerebral calcified embolism in the case of calcified aortic valve is very rare and there are less than 10 case reports in the literature.

Detection of PIK3/AKT pathway in Moroccan population with triple negative breast cancer.

Background: Triple Negative Breast Cancer (TNBC) is an aggressive form of breast cancer, that represents 10-20% of all breast carcinomas and characterized by the lack of a specific cell surface marker compared to other breast cancer subtypes. Due to the absence of molecular markers for TNBC his treatment options remains limited, without proven targeted therapies, which emphasize the need for discovering molecular markers that could be targeted for patient treatment, An important number of TNBC cases harbor aberrations in the phosphoinositide 3-kinase (PI3K) pathway, leading to constitutive activation of the downstream signaling pathway. Among mechanisms of PI3K enhancement, PIK3CA mutations are most frequently (~ 30%) observed, along with protein loss of PTEN and AKT activation by phosphorylation (pAkt).

Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.

Objective: Xeroderma pigmentosum (XP) is a genetically and clinically heterogeneous disease, associated with an inherited defect in one of eight different genes (XPA to XPG and XPV). In addition to the early onset of the skin manifestations, the XP group A is marked by the presence of a mild to severe neural disorders which appear tardily and worsens with age. In this study, 9 patients with moderate clinical profile belonging to 6 XP families were recruited to determine the XPA mutational spectrum in Morocco, using the direct sequencing of the whole coding region of the XPA gene.

Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.

H syndrome is an autosomal recessive syndrome, which affects the skin and some vital organs, it is caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter hENT3. This report describes a patient with typical features of H syndrome. Based on the patient's clinical features, SLC29A3 was selected for molecular investigation.

Incidence of Gastric Cancer in Marrakech and Casablanca, Morocco.

Gastric cancer is the fifth most common cancer globally with over 70% of new cases occurring in developing countries. In Morocco, oncologists in Marrakech suspected higher frequency of gastric cancer compared to Casablanca, a city 150 kilometers away. This study calculated age-specific, sex-specific, and total incidence rates of gastric cancer in Marrakech and was compared to the Casablanca population-based cancer registry.

c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.

Xeroderma pigmentosum is a rare autosomal recessive disease characterized by hypersensitivity to UV light which is due to alterations of the nucleotide excision repair pathway. Eight genes (XPA to XPG and XPV) are responsible for the disease. Among them, the XPC gene is known to be the most mutated in Mediterranean patients.